Mutagenetix > Incidental Mutations

Incidental Mutation 'R0371:Unc5c'

30462

Institutional Source

Beutler Lab

Gene Symbol

Unc5c

Ensembl Gene

ENSMUSG00000059921

Gene Name

unc-5 netrin receptor C

Synonyms

B130051O18Rik, Unc5h3

MMRRC Submission

038577-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R0371 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

141465216-141834924 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 141827522 bp

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 770 (P770S)

Ref Sequence

ENSEMBL: ENSMUSP00000117487 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000075282] [ENSMUST00000106236] [ENSMUST00000130636] [ENSMUST00000142762]

Predicted Effect

probably benign
Transcript: ENSMUST00000075282
AA Change: P844S

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000074758
Gene: ENSMUSG00000059921
AA Change: P844S

Domain	Start	End	E-Value	Type
signal peptide	1	39	N/A	INTRINSIC
SCOP:d2fcba2	64	164	9e-3	SMART
IGc2	179	246	2.72e-5	SMART
TSP1	263	314	8.54e-13	SMART
TSP1	319	368	1.18e-6	SMART
transmembrane domain	396	418	N/A	INTRINSIC
ZU5	547	650	6.92e-63	SMART
low complexity region	695	704	N/A	INTRINSIC
DEATH	857	948	6.68e-24	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000106236
AA Change: P825S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000101843
Gene: ENSMUSG00000059921
AA Change: P825S

Domain	Start	End	E-Value	Type
signal peptide	1	39	N/A	INTRINSIC
SCOP:d2fcba2	64	164	9e-3	SMART
IGc2	179	246	2.72e-5	SMART
TSP1	263	314	8.54e-13	SMART
TSP1	319	368	1.18e-6	SMART
transmembrane domain	377	399	N/A	INTRINSIC
ZU5	528	631	6.92e-63	SMART
low complexity region	676	685	N/A	INTRINSIC
DEATH	838	929	6.68e-24	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000130636
AA Change: P770S

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000117487
Gene: ENSMUSG00000059921
AA Change: P770S

Domain	Start	End	E-Value	Type
signal peptide	1	39	N/A	INTRINSIC
IGc2	105	172	2.72e-5	SMART
TSP1	189	240	8.54e-13	SMART
TSP1	245	294	1.18e-6	SMART
transmembrane domain	322	344	N/A	INTRINSIC
ZU5	473	576	6.92e-63	SMART
low complexity region	621	630	N/A	INTRINSIC
DEATH	783	874	6.68e-24	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000142762
AA Change: P844S

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000118212
Gene: ENSMUSG00000059921
AA Change: P844S

Domain	Start	End	E-Value	Type
signal peptide	1	39	N/A	INTRINSIC
SCOP:d2fcba2	64	164	9e-3	SMART
IGc2	179	246	2.72e-5	SMART
TSP1	263	314	8.54e-13	SMART
TSP1	319	368	1.18e-6	SMART
transmembrane domain	396	418	N/A	INTRINSIC
ZU5	547	650	6.92e-63	SMART
low complexity region	695	704	N/A	INTRINSIC
DEATH	857	948	6.68e-24	SMART

Meta Mutation Damage Score

0.0818

Coding Region Coverage

1x: 99.0%
3x: 98.0%
10x: 95.6%
20x: 90.6%

Validation Efficiency

99% (67/68)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene product belongs to the UNC-5 family of netrin receptors. Netrins are secreted proteins that direct axon extension and cell migration during neural development. They are bifunctional proteins that act as attractants for some cell types and as repellents for others, and these opposite actions are thought to be mediated by two classes of receptors. The UNC-5 family of receptors mediate the repellent response to netrin; they are transmembrane proteins containing 2 immunoglobulin (Ig)-like domains and 2 type I thrombospondin motifs in the extracellular region. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mutants exhibit ataxia, and reduced size early in life. Mutants exhibit cerebellar defects including reduced size and ectopic cerebellar cells in the midbrain. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy9	G	A	16: 4,288,047	R1068C	probably benign	Het
Afmid	C	T	11: 117,835,140		probably benign	Het
Aqr	A	G	2: 114,157,604	V159A	possibly damaging	Het
Atp6v0d2	G	C	4: 19,880,033	T288R	possibly damaging	Het
Btnl1	T	C	17: 34,381,057	V178A	probably damaging	Het
Ccdc110	T	A	8: 45,942,806	M578K	possibly damaging	Het
Ccdc38	G	T	10: 93,562,812	E51*	probably null	Het
Cep290	T	A	10: 100,518,564		probably benign	Het
Cilp2	T	C	8: 69,881,606	E914G	probably damaging	Het
Col6a2	T	C	10: 76,614,473	N208S	probably benign	Het
Ctrb1	T	A	8: 111,687,151	I194F	probably benign	Het
Cyp4a12a	C	G	4: 115,326,683	R229G	probably damaging	Het
Dach1	C	T	14: 97,969,903	V337M	probably damaging	Het
Dcbld2	A	G	16: 58,450,823	N321S	probably benign	Het
Enpep	C	T	3: 129,283,867		probably null	Het
Fat1	T	C	8: 44,951,892	L560P	probably damaging	Het
Fdxr	T	C	11: 115,276,089	H58R	possibly damaging	Het
Filip1	G	T	9: 79,860,091	P147T	probably damaging	Het
Fras1	G	A	5: 96,555,331	E318K	possibly damaging	Het
Gm4759	A	T	7: 106,422,779	C339S	unknown	Het
Grk2	T	C	19: 4,291,586		probably null	Het
Havcr1	T	C	11: 46,752,589	I112T	possibly damaging	Het
Hjurp	G	A	1: 88,277,368		probably benign	Het
Ildr2	G	A	1: 166,303,564	V330I	probably damaging	Het
Ino80d	T	C	1: 63,057,956		probably benign	Het
Iqsec1	A	G	6: 90,670,403		probably benign	Het
Irf2bpl	C	T	12: 86,881,643	W752*	probably null	Het
Kdr	T	A	5: 75,941,834	H1211L	probably benign	Het
Klri2	A	G	6: 129,732,143	*249R	probably null	Het
Ktn1	A	T	14: 47,724,003	K1054*	probably null	Het
Lactb2	A	G	1: 13,650,760	S83P	possibly damaging	Het
Lrrc3b	A	T	14: 15,358,560	C15*	probably null	Het
Mrs2	T	C	13: 24,993,095	I430V	probably benign	Het
Myo3b	C	T	2: 70,252,960		probably benign	Het
Nbas	C	T	12: 13,331,095	T696I	probably damaging	Het
Nsun6	T	C	2: 15,030,087	D240G	probably damaging	Het
Nup107	T	C	10: 117,763,769	E615G	probably damaging	Het
Olfr1283	A	T	2: 111,369,153	I174L	probably benign	Het
Olfr205	A	G	16: 59,329,222	C96R	possibly damaging	Het
Olfr411	T	A	11: 74,346,934	I217F	probably damaging	Het
Olfr447	A	T	6: 42,911,938	R138S	probably benign	Het
Pabpc1l	G	A	2: 164,035,272	V256M	probably benign	Het
Sf3b2	C	T	19: 5,274,824	D845N	probably damaging	Het
Sik1	T	C	17: 31,848,984	D409G	probably benign	Het
Slc22a22	A	T	15: 57,249,735	D369E	possibly damaging	Het
Smg1	T	A	7: 118,168,300		probably benign	Het
Snap29	C	A	16: 17,406,203	D27E	probably benign	Het
Snrnp40	C	G	4: 130,378,043		probably null	Het
Sorcs3	A	G	19: 48,603,894	I333V	probably benign	Het
Spag7	A	G	11: 70,664,796	M105T	probably damaging	Het
Srgap3	A	T	6: 112,771,471	S407T	probably damaging	Het
Supt6	T	C	11: 78,223,157	N854S	probably benign	Het
Syne2	T	C	12: 75,933,845	S1460P	probably damaging	Het
Taok3	C	T	5: 117,206,687	Q160*	probably null	Het
Tchhl1	C	A	3: 93,469,577	A27E	probably damaging	Het
Tet1	T	C	10: 62,878,399	D539G	probably damaging	Het
Tut1	T	C	19: 8,962,773	F374L	probably damaging	Het
Vmn2r101	T	A	17: 19,590,132	N393K	probably benign	Het
Vmn2r94	T	A	17: 18,257,294	H285L	probably benign	Het
Wdr62	G	A	7: 30,242,158	S700L	possibly damaging	Het
Wscd1	A	G	11: 71,788,723	D474G	probably damaging	Het
Zcchc7	A	G	4: 44,762,190	N106S	probably damaging	Het
Zfp345	G	T	2: 150,472,063	T518N	possibly damaging	Het
Zfp648	A	T	1: 154,204,667	S191C	possibly damaging	Het
Zkscan8	C	T	13: 21,526,674	E89K	probably damaging	Het

Other mutations in Unc5c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00232:Unc5c	APN	3	141788940	missense	probably damaging	0.99
IGL01089:Unc5c	APN	3	141818202	splice site	probably benign
IGL01478:Unc5c	APN	3	141828451	missense	probably damaging	1.00
IGL02083:Unc5c	APN	3	141714647	missense	probably damaging	0.99
IGL02269:Unc5c	APN	3	141788982	missense	probably damaging	1.00
IGL02565:Unc5c	APN	3	141803919	missense	probably damaging	1.00
IGL02973:Unc5c	APN	3	141788890	missense	probably benign	0.12
R0179:Unc5c	UTSW	3	141818067	nonsense	probably null
R0309:Unc5c	UTSW	3	141733933	missense	probably benign	0.01
R0603:Unc5c	UTSW	3	141771102	missense	probably damaging	1.00
R0904:Unc5c	UTSW	3	141803840	missense	probably benign	0.08
R0907:Unc5c	UTSW	3	141789033	missense	probably damaging	0.99
R1300:Unc5c	UTSW	3	141828543	missense	possibly damaging	0.94
R1491:Unc5c	UTSW	3	141789822	missense	probably damaging	1.00
R1494:Unc5c	UTSW	3	141827549	missense	possibly damaging	0.93
R1674:Unc5c	UTSW	3	141757837	missense	possibly damaging	0.74
R1676:Unc5c	UTSW	3	141757837	missense	possibly damaging	0.74
R1726:Unc5c	UTSW	3	141818103	missense	probably damaging	1.00
R1750:Unc5c	UTSW	3	141827517	missense	possibly damaging	0.89
R1815:Unc5c	UTSW	3	141757757	missense	probably damaging	1.00
R2381:Unc5c	UTSW	3	141678155	missense	probably damaging	1.00
R2394:Unc5c	UTSW	3	141678131	missense	probably damaging	1.00
R2945:Unc5c	UTSW	3	141789974	missense	probably damaging	0.97
R4284:Unc5c	UTSW	3	141714674	missense	probably damaging	1.00
R4285:Unc5c	UTSW	3	141714674	missense	probably damaging	1.00
R4287:Unc5c	UTSW	3	141714674	missense	probably damaging	1.00
R4681:Unc5c	UTSW	3	141768613	critical splice donor site	probably null
R4736:Unc5c	UTSW	3	141816931	missense	probably benign	0.00
R4740:Unc5c	UTSW	3	141816931	missense	probably benign	0.00
R4774:Unc5c	UTSW	3	141828517	missense	probably damaging	1.00
R4862:Unc5c	UTSW	3	141789773	missense	probably damaging	1.00
R4905:Unc5c	UTSW	3	141801310	missense	probably benign	0.19
R4921:Unc5c	UTSW	3	141788966	missense	probably damaging	1.00
R5150:Unc5c	UTSW	3	141757793	missense	probably damaging	1.00
R5559:Unc5c	UTSW	3	141803787	missense	probably damaging	1.00
R5562:Unc5c	UTSW	3	141768530	missense	probably damaging	1.00
R5643:Unc5c	UTSW	3	141678125	missense	probably damaging	1.00
R5644:Unc5c	UTSW	3	141678125	missense	probably damaging	1.00
R5775:Unc5c	UTSW	3	141828520	missense	probably damaging	1.00
R5912:Unc5c	UTSW	3	141789006	missense	probably damaging	1.00
R6154:Unc5c	UTSW	3	141678153	missense	probably damaging	0.97
R6547:Unc5c	UTSW	3	141790019	missense	probably benign	0.16
R6558:Unc5c	UTSW	3	141789729	missense	probably damaging	0.98
R7104:Unc5c	UTSW	3	141733904	missense	probably damaging	1.00
R7113:Unc5c	UTSW	3	141801293	missense	probably benign	0.00
R7282:Unc5c	UTSW	3	141677990	missense	probably damaging	0.98
R7317:Unc5c	UTSW	3	141789942	missense	probably benign	0.00
R7787:Unc5c	UTSW	3	141768552	missense	probably damaging	1.00
R7873:Unc5c	UTSW	3	141827549	missense	probably benign	0.04
R7896:Unc5c	UTSW	3	141771161	missense	possibly damaging	0.73
R7936:Unc5c	UTSW	3	141828477	missense	possibly damaging	0.48
R8041:Unc5c	UTSW	3	141465784	missense	possibly damaging	0.92
R8277:Unc5c	UTSW	3	141768612	critical splice donor site	probably null
X0018:Unc5c	UTSW	3	141714739	missense	probably damaging	1.00
X0065:Unc5c	UTSW	3	141827661	missense	probably damaging	1.00
Z1088:Unc5c	UTSW	3	141733900	missense	probably damaging	1.00
Z1176:Unc5c	UTSW	3	141678010	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CAGGTTGAGAACTGCGATCTTGGAG -3'
(R):5'- AGGTCTAGAAGCCTGGACACACTC -3'

Sequencing Primer
(F):5'- CTAGGAACTCTGAACATGGGCTATAC -3'
(R):5'- ACACTCACCTGTCCAGGTTG -3'

Posted On

2013-04-24